ClinVar for Gene (Select 9918) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373184	NM_014865.4(NCAPD2):c.1142G>A (p.Arg381Gln)	NCAPD2 (R381Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373181	NM_014865.4(NCAPD2):c.189C>G (p.Ile63Met)	NCAPD2 (I63M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371370	NM_014865.4(NCAPD2):c.3065G>A (p.Cys1022Tyr)	NCAPD2 (C1022Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365458	NM_014865.4(NCAPD2):c.4004A>G (p.Asn1335Ser)	NCAPD2 (N1335S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364752	NM_014865.4(NCAPD2):c.3635A>C (p.Gln1212Pro)	NCAPD2 (Q1212P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361220	NM_014865.4(NCAPD2):c.1232G>C (p.Gly411Ala)	NCAPD2 (G411A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342710	NM_014865.4(NCAPD2):c.2008C>T (p.Gln670Ter)	NCAPD2 (Q670*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3341600	NM_014865.4(NCAPD2):c.2283C>T (p.Thr761=)	NCAPD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3337385	NM_014865.4(NCAPD2):c.3683A>C (p.Tyr1228Ser)	NCAPD2 (Y1228S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3298698	NM_014865.4(NCAPD2):c.2858G>A (p.Arg953Gln)	NCAPD2 (R953Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298697	NM_014865.4(NCAPD2):c.3895G>A (p.Gly1299Arg)	NCAPD2 (G1299R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298696	NM_014865.4(NCAPD2):c.1986G>T (p.Met662Ile)	NCAPD2 (M662I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298695	NM_014865.4(NCAPD2):c.1985T>A (p.Met662Lys)	NCAPD2 (M662K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298694	NM_014865.4(NCAPD2):c.1854G>C (p.Glu618Asp)	NCAPD2 (E618D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298693	NM_014865.4(NCAPD2):c.2710A>G (p.Lys904Glu)	NCAPD2 (K904E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298692	NM_014865.4(NCAPD2):c.821T>C (p.Ile274Thr)	NCAPD2 (I274T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298691	NM_014865.4(NCAPD2):c.1747C>T (p.Arg583Trp)	NCAPD2 (R583W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298690	NM_014865.4(NCAPD2):c.2850C>G (p.Cys950Trp)	NCAPD2 (C950W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298688	NM_014865.4(NCAPD2):c.3644G>A (p.Arg1215His)	NCAPD2 (R1215H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298687	NM_014865.4(NCAPD2):c.2732C>T (p.Pro911Leu)	NCAPD2 (P911L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3298686	NM_014865.4(NCAPD2):c.1076G>A (p.Arg359Gln)	NCAPD2 (R359Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298685	NM_014865.4(NCAPD2):c.813G>A (p.Met271Ile)	NCAPD2 (M271I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298684	NM_014865.4(NCAPD2):c.3722G>A (p.Arg1241His)	NCAPD2 (R1241H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3252572	NM_014865.4(NCAPD2):c.1451C>T (p.Pro484Leu)	NCAPD2 (P484L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244331	NC_000012.11:g.(?_6438478)_(6950528_?)dup	ACRBP, CD27 +23 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 3180895	NM_014865.4(NCAPD2):c.841G>A (p.Glu281Lys)	NCAPD2 (E281K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180890	NM_014865.4(NCAPD2):c.679C>T (p.Leu227Phe)	NCAPD2 (L227F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180853	NM_014865.4(NCAPD2):c.4019C>T (p.Pro1340Leu)	NCAPD2 (P1340L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180846	NM_014865.4(NCAPD2):c.3985G>T (p.Ala1329Ser)	NCAPD2 (A1329S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180841	NM_014865.4(NCAPD2):c.3922G>A (p.Ala1308Thr)	NCAPD2 (A1308T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180831	NM_014865.4(NCAPD2):c.377G>A (p.Arg126His)	NCAPD2 (R126H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180812	NM_014865.4(NCAPD2):c.3561C>A (p.His1187Gln)	NCAPD2 (H1187Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180806	NM_014865.4(NCAPD2):c.3518G>T (p.Arg1173Leu)	NCAPD2 (R1173L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180779	NM_014865.4(NCAPD2):c.3170G>A (p.Arg1057His)	NCAPD2 (R1057H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180774	NM_014865.4(NCAPD2):c.3169C>T (p.Arg1057Cys)	NCAPD2 (R1057C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180769	NM_014865.4(NCAPD2):c.3049C>G (p.Leu1017Val)	NCAPD2 (L1017V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180762	NM_014865.4(NCAPD2):c.2988C>G (p.Ile996Met)	NCAPD2 (I996M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180757	NM_014865.4(NCAPD2):c.2855G>A (p.Arg952His)	NCAPD2 (R952H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180752	NM_014865.4(NCAPD2):c.2852G>A (p.Arg951Gln)	NCAPD2 (R951Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180746	NM_014865.4(NCAPD2):c.2771T>C (p.Met924Thr)	NCAPD2 (M924T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180741	NM_014865.4(NCAPD2):c.2741C>T (p.Ser914Phe)	NCAPD2 (S914F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180704	NM_014865.4(NCAPD2):c.2299T>A (p.Cys767Ser)	NCAPD2 (C767S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3180696	NM_014865.4(NCAPD2):c.2077G>A (p.Val693Met)	NCAPD2 (V693M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180680	NM_014865.4(NCAPD2):c.1826G>C (p.Arg609Thr)	NCAPD2 (R609T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3180671	NM_014865.4(NCAPD2):c.1808C>T (p.Ser603Leu)	NCAPD2 (S603L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3180668	NM_014865.4(NCAPD2):c.1802A>G (p.Asn601Ser)	NCAPD2 (N601S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3180665	NM_014865.4(NCAPD2):c.1793A>T (p.Asn598Ile)	NCAPD2 (N598I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3180637	NM_014865.4(NCAPD2):c.1503G>T (p.Glu501Asp)	NCAPD2 (E501D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180623	NM_014865.4(NCAPD2):c.131T>C (p.Phe44Ser)	NCAPD2 (F44S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180622	NM_014865.4(NCAPD2):c.1303A>G (p.Asn435Asp)	NCAPD2 (N435D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3057706	NM_014865.4(NCAPD2):c.1344A>G (p.Gly448=)	NCAPD2	Single nucleotide variant (synonymous variant)	NCAPD2-related disorder	GLikely benign
Select item 3057598	NM_014865.4(NCAPD2):c.3336G>A (p.Ala1112=)	NCAPD2	Single nucleotide variant (synonymous variant)	NCAPD2-related disorder	GLikely benign
Select item 3056807	NM_014865.4(NCAPD2):c.2507C>T (p.Pro836Leu)	NCAPD2 (P836L)	Single nucleotide variant (missense variant)	NCAPD2-related disorder	GBenign
Select item 3049053	NM_014865.4(NCAPD2):c.988-12TC[3]	NCAPD2	Microsatellite (intron variant)	NCAPD2-related disorder	GLikely benign
Select item 3045995	NM_014865.4(NCAPD2):c.3654-6C>T	NCAPD2	Single nucleotide variant (intron variant)	NCAPD2-related disorder	GLikely benign
Select item 3045904	NM_014865.4(NCAPD2):c.2162C>G (p.Ser721Cys)	NCAPD2 (S721C)	Single nucleotide variant (missense variant)	NCAPD2-related disorder	GLikely benign
Select item 3044964	NM_014865.4(NCAPD2):c.1590-10G>A	NCAPD2	Single nucleotide variant (intron variant)	NCAPD2-related disorder	GLikely benign
Select item 3044588	NM_014865.4(NCAPD2):c.1653T>C (p.His551=)	NCAPD2	Single nucleotide variant (synonymous variant)	NCAPD2-related disorder	GLikely benign
Select item 3043179	NM_014865.4(NCAPD2):c.1026G>A (p.Ala342=)	NCAPD2	Single nucleotide variant (synonymous variant)	NCAPD2-related disorder	GLikely benign
Select item 3039262	NM_014865.4(NCAPD2):c.1695C>A (p.Ile565=)	NCAPD2	Single nucleotide variant (synonymous variant)	NCAPD2-related disorder	GBenign
Select item 3038871	NM_014865.4(NCAPD2):c.2682A>G (p.Ala894=)	NCAPD2	Single nucleotide variant (synonymous variant)	NCAPD2-related disorder	GLikely benign
Select item 3034835	NM_014865.4(NCAPD2):c.1901T>C (p.Ile634Thr)	NCAPD2 (I634T)	Single nucleotide variant (missense variant)	NCAPD2-related disorder	GLikely benign
Select item 3034389	NM_014865.4(NCAPD2):c.243T>C (p.Thr81=)	NCAPD2	Single nucleotide variant (synonymous variant)	NCAPD2-related disorder	GBenign
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2663273	NM_014865.4(NCAPD2):c.1150_1151del (p.Val384fs)	NCAPD2 (V384fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 2642616	NM_014865.4(NCAPD2):c.1903A>C (p.Thr635Pro)	NCAPD2 (T635P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2620026	NM_014865.4(NCAPD2):c.620A>G (p.Glu207Gly)	NCAPD2 (E207G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615692	NM_014865.4(NCAPD2):c.875G>A (p.Arg292Gln)	NCAPD2 (R292Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615197	NM_014865.4(NCAPD2):c.1661C>T (p.Pro554Leu)	NCAPD2 (P554L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613405	NM_014865.4(NCAPD2):c.1556G>A (p.Arg519His)	NCAPD2 (R519H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612053	NM_014865.4(NCAPD2):c.3668A>C (p.Gln1223Pro)	NCAPD2 (Q1223P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611519	NM_014865.4(NCAPD2):c.388T>A (p.Ser130Thr)	NCAPD2 (S130T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608122	NM_014865.4(NCAPD2):c.1234C>T (p.Arg412Cys)	NCAPD2 (R412C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605730	NM_014865.4(NCAPD2):c.1912A>G (p.Ile638Val)	NCAPD2 (I638V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592264	NM_014865.4(NCAPD2):c.2526A>T (p.Glu842Asp)	NCAPD2 (E842D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560040	NM_014865.4(NCAPD2):c.1787G>A (p.Cys596Tyr)	NCAPD2 (C596Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552747	NM_014865.4(NCAPD2):c.3450G>C (p.Lys1150Asn)	NCAPD2 (K1150N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551070	NM_014865.4(NCAPD2):c.1130A>C (p.Asn377Thr)	NCAPD2 (N377T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546312	NM_014865.4(NCAPD2):c.1073C>G (p.Ala358Gly)	NCAPD2 (A358G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545093	NM_014865.4(NCAPD2):c.1597A>G (p.Ile533Val)	NCAPD2 (I533V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542533	NM_014865.4(NCAPD2):c.2368G>A (p.Gly790Arg)	NCAPD2 (G790R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539979	NM_014865.4(NCAPD2):c.1166C>G (p.Thr389Ser)	NCAPD2 (T389S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532937	NM_014865.4(NCAPD2):c.3254G>A (p.Arg1085His)	NCAPD2 (R1085H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530876	NM_014865.4(NCAPD2):c.2059C>T (p.Pro687Ser)	NCAPD2 (P687S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522333	NM_014865.4(NCAPD2):c.1895G>A (p.Arg632Gln)	NCAPD2 (R632Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512191	NM_014865.4(NCAPD2):c.4184C>T (p.Ser1395Leu)	NCAPD2 (S1395L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509534	NM_014865.4(NCAPD2):c.1490C>G (p.Pro497Arg)	NCAPD2 (P497R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494982	NM_014865.4(NCAPD2):c.4012G>C (p.Val1338Leu)	NCAPD2 (V1338L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488859	NM_014865.4(NCAPD2):c.2276G>A (p.Arg759Gln)	NCAPD2 (R759Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482566	NM_014865.4(NCAPD2):c.3812G>A (p.Arg1271Gln)	NCAPD2 (R1271Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482516	NM_014865.4(NCAPD2):c.1459A>G (p.Lys487Glu)	NCAPD2 (K487E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482206	NM_014865.4(NCAPD2):c.3716G>T (p.Gly1239Val)	NCAPD2 (G1239V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478592	NM_014865.4(NCAPD2):c.3887G>A (p.Gly1296Asp)	NCAPD2 (G1296D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474505	NM_014865.4(NCAPD2):c.2524G>A (p.Glu842Lys)	NCAPD2 (E842K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470813	NM_014865.4(NCAPD2):c.4106A>G (p.Glu1369Gly)	NCAPD2 (E1369G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445958	NM_014865.4(NCAPD2):c.1406C>T (p.Ala469Val)	NCAPD2 (A469V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2431533	NM_014865.4(NCAPD2):c.3054_3057del (p.Leu1019fs)	NCAPD2 (L1019fs)	Deletion (frameshift variant)	Microcephaly 21, primary, autosomal recessive	GUncertain significance
Select item 2423987	NC_000012.11:g.(?_4368352)_(9027607_?)dup	A2ML1, ACRBP +85 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance

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